Mouse Models DRPLA Publication

 Atn1Q112/+ mouse

Identification

Causal gene(s)
ATN1
Repeat size or mutation
112Q
Animal model
Mouse

Model Details

Mouse strain / background
C57BL/6Ntac
Type of model
knockin

Transgenic Construct

Transgenic construct: sequence type
human ATN1 DNA
Transgenic construct: details
endogenous mouse Atn1 allele was replaced with the human ATN1 sequence, from 5'UTR to 3'UTR with expanded pure 112 CAG repeats in exon 5 using CRISPR/Cas9

Phenotype

Progression
progressive
Hallmark features
Incoordination, gait disturbances, tremors, reduced brain size, aggregate accumulation

Source & Publications

Originating lab / institution
University of Washington

Twenty Twenty-Five

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